Genome search in celiac disease

Article Abstract:

For celiac disease (CD) a genome search has been made using 281 markers on 110 affected sib pairs and their parents. First systematic linkage analysis was performed on 39 pairs in which both sibs had symptomatic CD. Replication of regions of interest was performed on 71 pairs in which one sib had a silent form and the other one had a symptomatic one. It appears that, in addition to the HLA risk factors, which are well known, a risk factor in 5qter is involved in both types of CD and that a factor on 11qter may differentiate the two. No region implicated recently in the literature was found to be associated.

Italy, Tunisia, France, Ireland, Research, Usage, Celiac disease, Chromosome mapping, Genetic disorders

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X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

Article Abstract:

A new gene, termed transducin beta-like 1 or TBL1, has been isolated that appears to be involved in X-linked late-onset sensironeural deafness associated with ocular albinism. TBL1 has 18 exons covering about 150 kb in the Xp22.3 region next to the ocular albinism gene (OA1). The new gene has characteristics that place it in the WD-40-repeat protein family.

Abnormalities, Deafness, X chromosome, Albinism

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